Testing Laboratories

Bringing Speed and Efficiency to Genetic Testing Labs

The genetics industry is undergoing a fundamental shift from a clinical science focus to a bioinformatics focus. Genetic services require a greater level of data analytics sophistication than is required for other laboratory testing. Currently, data generated by new tests can overwhelm information technology systems and human interpretation capabilities. Our VarSeq® software can bring speed and efficiency to genetic testing labs by simplifying the process of analyzing and interpreting the data. With an intuitive design, VarSeq allows you to create a high throughput environment by creating repeatable workflows.

Cancer Diagnostics

Make breakthroughs in cancer diagnostics with supported gene panel testing and whole exome and genome analysis. VarSeq includes the specialized features needed for cancer workflows. Allelic ratios are automatically calculated to detect somatic mutations at low tumor fractions. VarSeq also enables cutting edge cancer analysis by easily supporting whole exome and genome sized datasets. VarSeq also provides complete support for Tumor Normal workflows. Samples can be imported as matched pairs, allowing germ line variants to be filtered out in a single step. Multiple paired samples can be imported in a single project enabling fast and accurate analysis in settings where reproducibility is critical.

Gene Panels, Exomes, & Whole Genomes

VaSeq automates your workflows and analyze variants for gene panels, exomes, and whole genomes. Also our CNV calling algorithm operates on existing clinical NGS gene panel, exome, and whole genome NGS data. The entire workflow is managed inside VarSeq’s clinical interpretation workflow and  enables CNV events to be considered alongside the annotated and filtered NGS small variants and incorporated into clinical reporting using VSReports.

Hereditary Testing & Diagnosis 

VarSeq helps clinical testing laboratories complete the time-critical and patient-centric workflows for gene testing and rare disease diagnosis. The VarSeq clinical stack supports all of the steps necessary to provide clinical genetic tests from the raw VCF variants to the signed out clinical report. VarSeq's flexibility allows you to customize workflows to the individual gene panel or exome test. Diagnostic testing used to identify the presence or absence of causal genetic variations for specific disease, predictive and pre-symptomatic genetics tests designed to identify hereditary gene changes that can increase the lifetime risk of developing diseases, and Newborn Screening used to test babies soon after birth to identify highly penetrant variants for certain diseases known to cause problems with health and development.The software also includes first-class support for the more complex workflows associated with discovering the causal variants of rare disease. This includes using related samples in trios and quad analysis, algorithms that detect inheritance patterns of variants, ranking of rare patheogenic variants by their relevance to the phenotype terms provided by differential diagnositics and the integration of the public and premium annotations sources.

Repeatable Workflows

VarSeq software provides a powerful filtering and annotation engine to sift through large variant data sets. Using a chain of filters, you can quickly narrow your list of variants down to those that are most likely to be of interest. After determining the parameters that work well for your analysis, you can save the state of your filters so that you can easily apply the same analysis to another dataset. The same automated workflow can be used for each batch of samples, making VarSeq an ideal solution for high-throughput environments. Real-time filtering gives you the power to quickly prototype and tune analysis workflows to the specific gene panels that your lab uses. Once the appropriate set of filters have been found, the workflow can be saved and applied to future sequencing outputs without having to re-enter any parameters.

Industry leading annotation sources

After data import, annotations are automatically applied based upon your pre-configured settings. Additional annotations can then be added at any time during the analysis process. The Golden Helix team curates a wide selection of public databases and updates these datasets on a quarterly basis. The specific annotations used in your analysis are stored locally with your data and are never changed without your explicit request. This ensures that your analysis is performed on a stable dataset and your results are reproducible and available in the future.

Learn more about our premium annotations:

  • Golden Helix Annotations with VarSeq
  • Latest Curation Updates to our Annotations
  • Webcast: VarSeq Custom Database Curation Capabilities
  • Integrating Custom Gene Panels for Variant Annotations
  • Maximizing Profitability in Your NGS Testing Lab

    Learn how to develop repeatable cacner and germline interpretation workflows that scale from panels to whole exomes and genomes.

    Learn More

    Recommended Learning Materials

    We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!


    Check out our free eBooks on a variety of different topics:

    Other Resources

    VarSeq Viewer:
    Download Here

    Introduction to VarSeq:
    Download Here